Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome

Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3...

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Detalles Bibliográficos
Autores principales: Hao, Shaojuan, Jin, Lei, Wang, Huijun, Li, Chenlong, Zheng, Fengyun, Ma, Duan, Zhang, Tianyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Brief Clinical Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023764/
https://www.ncbi.nlm.nih.gov/pubmed/27526242
http://dx.doi.org/10.1097/SCS.0000000000002934

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